Incidental Mutation 'R7774:Adprhl1'
| ID |
598770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| MMRRC Submission |
045830-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7774 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13298682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 83
(V83I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033825]
[ENSMUST00000168498]
[ENSMUST00000171619]
[ENSMUST00000204916]
|
| AlphaFold |
Q8BGK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033825
AA Change: V83I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448
AA Change: V83I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
6 |
327 |
1.2e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168498
|
| SMART Domains |
Protein: ENSMUSP00000131920
Gene: ENSMUSG00000031448
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
69 |
196 |
9e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171619
AA Change: V2I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132014
Gene: ENSMUSG00000031448
AA Change: V2I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
1 |
135 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204916
AA Change: V83I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: V83I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
6 |
327 |
4.2e-49 |
PFAM |
|
low complexity region
|
509 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
955 |
969 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1047 |
1150 |
1.82e-5 |
PROSPERO |
|
internal_repeat_1
|
1157 |
1274 |
1.82e-5 |
PROSPERO |
|
low complexity region
|
1275 |
1290 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
T |
15: 98,494,414 (GRCm39) |
T809N |
probably benign |
Het |
| Adgb |
C |
A |
10: 10,215,404 (GRCm39) |
E1561* |
probably null |
Het |
| Adgra1 |
A |
T |
7: 139,427,628 (GRCm39) |
H65L |
possibly damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,688,103 (GRCm39) |
G856V |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,754,161 (GRCm39) |
K177E |
unknown |
Het |
| Ccdc122 |
T |
C |
14: 77,305,379 (GRCm39) |
V11A |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,677,804 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
T |
C |
10: 76,545,710 (GRCm39) |
T921A |
unknown |
Het |
| Cul3 |
A |
C |
1: 80,247,011 (GRCm39) |
D697E |
probably benign |
Het |
| Defa34 |
G |
A |
8: 22,155,978 (GRCm39) |
E56K |
probably benign |
Het |
| Dhrs7c |
A |
G |
11: 67,700,641 (GRCm39) |
R63G |
probably damaging |
Het |
| Dnaaf11 |
T |
G |
15: 66,321,401 (GRCm39) |
I247L |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,550,975 (GRCm39) |
K136* |
probably null |
Het |
| Exoc7 |
T |
C |
11: 116,186,142 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,972,908 (GRCm39) |
Y342C |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,311,986 (GRCm39) |
I76F |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,240,727 (GRCm39) |
I1291N |
probably benign |
Het |
| Fzd2 |
A |
T |
11: 102,496,314 (GRCm39) |
I253F |
possibly damaging |
Het |
| Gm5592 |
A |
T |
7: 40,939,283 (GRCm39) |
Y855F |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,880,183 (GRCm39) |
K112R |
possibly damaging |
Het |
| H4c16 |
G |
T |
6: 136,781,281 (GRCm39) |
P33T |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,875,784 (GRCm39) |
Y1570C |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,970,140 (GRCm39) |
T228A |
probably benign |
Het |
| Ipo13 |
G |
T |
4: 117,771,494 (GRCm39) |
N25K |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,700,968 (GRCm39) |
I917N |
probably damaging |
Het |
| Krt39 |
T |
C |
11: 99,405,437 (GRCm39) |
|
probably null |
Het |
| Krtap13-1 |
C |
T |
16: 88,526,061 (GRCm39) |
T95I |
possibly damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,863 (GRCm39) |
E107* |
probably null |
Het |
| Ly6a |
A |
T |
15: 74,869,416 (GRCm39) |
I13N |
probably damaging |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,407 (GRCm39) |
T275A |
probably benign |
Het |
| Mgat3 |
C |
T |
15: 80,095,743 (GRCm39) |
T190M |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,396,116 (GRCm39) |
R124H |
unknown |
Het |
| Mucl1 |
G |
T |
15: 103,783,950 (GRCm39) |
N85K |
possibly damaging |
Het |
| Nifk |
G |
A |
1: 118,255,391 (GRCm39) |
E96K |
possibly damaging |
Het |
| Opn3 |
C |
T |
1: 175,490,471 (GRCm39) |
V397M |
probably damaging |
Het |
| Or52ad1 |
T |
C |
7: 102,995,737 (GRCm39) |
R133G |
possibly damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,739 (GRCm39) |
F251I |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,655 (GRCm39) |
V274A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,579 (GRCm39) |
M737V |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,492,757 (GRCm39) |
D98V |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,404,303 (GRCm39) |
T2311A |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,360,802 (GRCm39) |
C195* |
probably null |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Pramel23 |
C |
T |
4: 143,423,676 (GRCm39) |
S371N |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,530 (GRCm39) |
T1166A |
probably damaging |
Het |
| Ran |
G |
A |
5: 129,099,874 (GRCm39) |
D215N |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,318,309 (GRCm39) |
F604L |
possibly damaging |
Het |
| Rgl1 |
T |
A |
1: 152,430,101 (GRCm39) |
E227D |
probably benign |
Het |
| Sec24b |
C |
A |
3: 129,777,846 (GRCm39) |
R1204L |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,098,348 (GRCm39) |
L1276P |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,084,814 (GRCm39) |
M820K |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,092,142 (GRCm39) |
M541K |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,847 (GRCm39) |
V351A |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,899,606 (GRCm39) |
D658G |
probably benign |
Het |
| Tlr6 |
T |
G |
5: 65,110,728 (GRCm39) |
E726D |
probably damaging |
Het |
| Tmem218 |
T |
A |
9: 37,133,864 (GRCm39) |
H101Q |
probably benign |
Het |
| Tnfrsf4 |
C |
T |
4: 156,098,795 (GRCm39) |
Q82* |
probably null |
Het |
| Trpm7 |
A |
G |
2: 126,655,158 (GRCm39) |
V1260A |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,258,563 (GRCm39) |
E282V |
probably damaging |
Het |
| Tuba8 |
T |
C |
6: 121,200,348 (GRCm39) |
V344A |
probably damaging |
Het |
| Tvp23a |
A |
G |
16: 10,245,245 (GRCm39) |
|
probably null |
Het |
| Zfp174 |
G |
A |
16: 3,667,215 (GRCm39) |
V135M |
probably damaging |
Het |
| Zfp418 |
G |
A |
7: 7,185,776 (GRCm39) |
V580I |
possibly damaging |
Het |
| Zfp451 |
T |
A |
1: 33,844,474 (GRCm39) |
E44D |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,978,838 (GRCm39) |
D525G |
probably benign |
Het |
|
| Other mutations in Adprhl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03268:Adprhl1
|
APN |
8 |
13,296,170 (GRCm39) |
splice site |
probably benign |
|
|
BB003:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB005:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB014:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB015:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Adprhl1
|
UTSW |
8 |
13,292,391 (GRCm39) |
splice site |
probably benign |
|
|
R0636:Adprhl1
|
UTSW |
8 |
13,298,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Adprhl1
|
UTSW |
8 |
13,298,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Adprhl1
|
UTSW |
8 |
13,298,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Adprhl1
|
UTSW |
8 |
13,298,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Adprhl1
|
UTSW |
8 |
13,292,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4411:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4412:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4413:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4615:Adprhl1
|
UTSW |
8 |
13,292,250 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4618:Adprhl1
|
UTSW |
8 |
13,292,250 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5016:Adprhl1
|
UTSW |
8 |
13,274,889 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5058:Adprhl1
|
UTSW |
8 |
13,292,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5060:Adprhl1
|
UTSW |
8 |
13,298,621 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5209:Adprhl1
|
UTSW |
8 |
13,292,563 (GRCm39) |
nonsense |
probably null |
|
|
R6103:Adprhl1
|
UTSW |
8 |
13,272,055 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6158:Adprhl1
|
UTSW |
8 |
13,274,977 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6221:Adprhl1
|
UTSW |
8 |
13,275,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6971:Adprhl1
|
UTSW |
8 |
13,273,476 (GRCm39) |
missense |
probably benign |
|
|
R7087:Adprhl1
|
UTSW |
8 |
13,271,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7362:Adprhl1
|
UTSW |
8 |
13,295,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Adprhl1
|
UTSW |
8 |
13,275,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7422:Adprhl1
|
UTSW |
8 |
13,272,873 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7439:Adprhl1
|
UTSW |
8 |
13,273,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7441:Adprhl1
|
UTSW |
8 |
13,273,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7772:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:Adprhl1
|
UTSW |
8 |
13,273,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7877:Adprhl1
|
UTSW |
8 |
13,275,316 (GRCm39) |
nonsense |
probably null |
|
|
R7926:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7928:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7929:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Adprhl1
|
UTSW |
8 |
13,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7945:Adprhl1
|
UTSW |
8 |
13,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7946:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7949:Adprhl1
|
UTSW |
8 |
13,274,225 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8155:Adprhl1
|
UTSW |
8 |
13,271,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8182:Adprhl1
|
UTSW |
8 |
13,272,774 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8753:Adprhl1
|
UTSW |
8 |
13,272,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8799:Adprhl1
|
UTSW |
8 |
13,272,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8893:Adprhl1
|
UTSW |
8 |
13,274,511 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9022:Adprhl1
|
UTSW |
8 |
13,274,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9161:Adprhl1
|
UTSW |
8 |
13,272,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9227:Adprhl1
|
UTSW |
8 |
13,271,974 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9228:Adprhl1
|
UTSW |
8 |
13,275,279 (GRCm39) |
missense |
probably benign |
|
|
R9283:Adprhl1
|
UTSW |
8 |
13,273,540 (GRCm39) |
missense |
probably benign |
|
|
R9426:Adprhl1
|
UTSW |
8 |
13,274,034 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9648:Adprhl1
|
UTSW |
8 |
13,273,245 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Adprhl1
|
UTSW |
8 |
13,275,613 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Adprhl1
|
UTSW |
8 |
13,295,476 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCACACCAAGTGTCGGG -3'
(R):5'- TGGTGGATGTTCCCTAGACC -3'
Sequencing Primer
(F):5'- TTCACACGCACAGGGTC -3'
(R):5'- TGGATGTTCCCTAGACCCTCGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation